Hs02678671_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140805175 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 56147
• Gene Name: protocadherin alpha 1
• Gene Aliases: PCDH-ALPHA1
• Location: Chr.5:140786136-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA1	NM_018900.3			NP_061723.1
	NM_031411.2			NP_113599.1
	AF152305.1			AAD43699.1
	AF169695.1			AAF89692.1

Target Gene Details

• Entrez Gene ID: 56146
• Gene Name: protocadherin alpha 2
• Gene Aliases: PCDH-ALPHA2
• Location: Chr.5:140794859-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	NM_031496.1	2	2610	NP_113684.1
	AF152310.1			AAD43704.1
	BC003126.1	2	2610	AAH03126.1

Target Gene Details

• Entrez Gene ID: 56145
• Gene Name: protocadherin alpha 3
• Gene Aliases: PCDH-ALPHA3
• Location: Chr.5:140801198-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2			NP_061729.1
	AF152311.1			AAD43705.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB1 PCDHA1 SLC25A2 PCDHGA1 PCDHB3 PCDHA6 PCDHGB2 PCDHA4 PCDHGB4 PCDHB14 PCDHGA10 PCDHAC1 PCDHB8 PCDHGA7 PCDHA9 PCDHAC2 PCDHB4 PCDHGB6 PCDHGB5 PCDHA10 PCDHGA3 PCDHA11 PCDHB12 PCDHA8 PCDHA13 PCDHB10 PCDHB6 PCDHGB1 PCDHGB3 PCDHGB7 PCDHB5 PCDHB11 PCDHB2 PCDHB16 PCDHB7 PCDHB13 PCDHGA4 PCDHGA9 PCDHB19P PCDHGA8 PCDHB18P LOC101926905 PCDHGA11 PCDHB15 PCDHA3 PCDHGA6 PCDHA2 PCDHGA5 PCDHA12 PCDHB9 TAF7 PCDHA5 PCDHB17P PCDHA7 PCDHGA12 PCDHGA2 PCDHGB8P
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	VTRNA1-2 PCDHA1 PCDHA8 PCDHA2 PCDHA6 VTRNA1-1 PCDHA4 VTRNA1-3 PCDHA5 ZMAT2 HARS PCDHA9 PCDHA7 PCDHA10 PCDHA3 PCDHA11 HARS2
nsv330045	Chr.5:140801416 - 140807405 on Build GRCh38	Deletion	PCDHA1 PCDHA2 PCDHA4 PCDHA3
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA5 PCDHA1 PCDHA8 PCDHA2 PCDHA6 PCDHA7 PCDHA4 PCDHA3

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

cell adhesion
homophilic cell adhesion via plasma membrane adhesion molecules
nervous system development

Function(s)

calcium ion binding